Publications:

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Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency.

Journal Of Clinical Laboratory Analysis

Li, Min M; Jiang, Shuting S; Liu, Siqi S; Jin, Yanhui Y; Wang, Mingshan M

Publication Date: 2022-11

Variant appearance in text: PC: A384S

PubMed Link: 36268972

Variant Present in the following documents:

• JCLA-36-e24732.pdf

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Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes.

Plos One

Fernández Arias, M M; Mazarico, E E; Gonzalez, A A; Muniesa, M M; Molinet, C C; Almeida, L L; Gómez Roig, M D MD

Publication Date: 2019

Variant appearance in text: PC: Ala384Ser

PubMed Link: 30811416

Variant Present in the following documents:

• Main text
• pone.0211114.pdf

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Deficiencies of the Natural Anticoagulants - Novel Clinical Laboratory Aspects of Thrombophilia Testing.

Ejifcc

Bereczky, Zsuzsanna Z; Gindele, Réka R; Speker, Marianna M; Kállai, Judit J

Publication Date: 2016-04

Variant appearance in text: PC: Ala384Ser

PubMed Link: 27683526

Variant Present in the following documents:

• Main text
• ejifcc-27-130.pdf

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: PC: 1150G>T

PubMed Link: 27408750

Variant Present in the following documents:

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Factor V Leiden, factor V Cambridge, factor II GA20210, and methylenetetrahydrofolate reductase in cerebral venous and sinus thrombosis: A case-control study.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Saadatnia, Mohammad M; Salehi, Mansour M; Movahedian, Ahmad A; Shariat, Seyed Ziaeddin Samsam SZ; Salari, Mehri M; Tajmirriahi, Marzieh M; Asadimobarakeh, Elham E; Salehi, Rasoul R; Amini, Gilda G; Ebrahimi, Homa H; Kheradmand, Ehsan E

Publication Date: 2015-06

Variant appearance in text: PC: A384S

PubMed Link: 26600830

Variant Present in the following documents:

• JRMS-20-554.pdf

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Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Haematologica

Kim, Hee-Jin HJ; Seo, Ja-Young JY; Lee, Ki-O KO; Bang, Sung-Hwan SH; Lee, Seung-Tae ST; Ki, Chang-Seok CS; Kim, Jong-Won JW; Jung, Chul Won CW; Kim, Duk-Kyung DK; Kim, Sun-Hee SH

Publication Date: 2014-03

Variant appearance in text: PC: Ala384Ser

PubMed Link: 24162787

Variant Present in the following documents:

• Main text

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Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Plos One

Tang, Liang L; Guo, Tao T; Yang, Rui R; Mei, Heng H; Wang, Huafang H; Lu, Xuan X; Yu, Jianming J; Wang, Qingyun Q; Hu, Yu Y

Publication Date: 2012

Variant appearance in text: PC: A384S

PubMed Link: 22545135

Variant Present in the following documents:

• pone.0035773.pdf

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Serpins in thrombosis, hemostasis and fibrinolysis.

Journal Of Thrombosis And Haemostasis : Jth

Rau, J C JC; Beaulieu, L M LM; Huntington, J A JA; Church, F C FC

Publication Date: 2007-07

Variant appearance in text: PC: A384S

PubMed Link: 17635716

Variant Present in the following documents:

• Main text

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